Fechar
Chronic Myelogenous Leukemia
(mutation?)
Burkitt's Lymphoma
(mutation?)
Cause of Trisomy 21
oblique palpebral fissures, flat facial profile, epicanthic folds, dysplasitc ears, protruding tongue, abundant neck skin,
flat nasal bridge;
(-) Moro reflex, muscle hypotonia;
simian crease, short broad hands, hypoplasia of middle phalanx, gap bet 1st and 2nd toe
associated CHD (endocardial cushion: ventricular/atrial septal defects);
esophageal atresia, small bowel stenosis, imperforate anus;
acute leukemia;
premature Alzheimer's;
dec immune response
prominent occiput, micrognathia, short neck, overlapping fingers, rocker bottom feet
microcephaly, micropthalmia, cleft lip & palate, polydactyly, rocker bottom feet
Chromosome 22 Deletion Syndrome:
where is the deletion?
thymic hypoplasia, parathyroid hypoplasia, cardiac manifestations, absence of T-cells, prone to viral infection;
hypocalcemia --> seizures, cyanosis, tetany
facial dysmorphism: small & sharp chin, small mouth w/ slightly everted uppr lip, long nose w/ prominent tip;
cardio abnormalities, learning disabilities, high arch palate;
mental retardation
47XXY, 48XXXY
45XO, 46XXp- or q-
hypogonadism in phenotypic females
Turner's: high postnatal mortality, do not live to adulthood
(chromosomal pattern?)
Turner's: defective 2nd X chromosome
(chromosomal pattern?)
Turner's: do not completely express classical phenotype
(chromosomal pattern?)
short stature, 1˚ amenorrhea, infertility, webbing of neck, chubby appearance, lymphedema, broad chest, wide spaced nipples, low post hairlines, pigmented nevi, coarctation of aorta
Klinefelter's: classic case
(chromosomal pattern?)
Klinefelter's: mosaic patterns?
testicular atrophy, azoospermia, gynecomastia, female dist. of hair, tendency to mental retardation, euchonoid body habitus w/ abnormally long legs
phenotypic male;
inc incidence of type II DM, metabolic syndrome, breast cancer, extragonadal germ cell tumors, autoimmune dis,, SLE
phenotypically normal males;
excessively tall, prone to acne
phenotypically normal females;
tendency to mental retardation;
amenorrhea, menstrual irregularities
presence of both ovarian and testicular tissue
divergent gonadal vs phenotypic sex
normal internal genitalia, ambiguous external genitalia;
no vagina/uterus, short penis, congenital adrenal hyperplasia
gonads are exclusively testes, external genitalia are either ambiguous or completely female
Complete androgen insensitivity syndrome, testicular feminization
(mutation at what chromosome?)
deficiency in Marfan's Syndrome
unusually tall, long & tapering extremities, arachnodactyly, dolichocephalic, bossing of frontal eminences, prominent supraorbital ridges, spinal deformities, pectus excavatum, loose jointed, loose skin
ectopia lentis, severe myopia,
retinal detachment
mitral valve prolapse,
cystic medionecrosis -> aortic dissection,
aortic dilation, aortic insufficiency
defect in Ehler's-Danlos Syndrome
inheritance of Marfan's
usual clinical manifestation
of Ehler's-Danlos Syndrome
EDS: skin & joint hypermobility, atrophic scars, easy bruising
(specific type, gene defect?)
EDS: joint hypermobility, pain, dislocations
(specific type?)
EDS: thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility
(specific type, gene defect?)
EDS: hypotonia, joint laxity,
congenital scoliosis, ocular fragility
(specific type, gene defect?)
EDS: severe joint hypermobility,
miid skin changes, scoliosis, bruising
(specific type, gene defect?)
EDS: severe skin fragility,
cutis laxa, bruising
(specific type, gene defect?)
inheritance of EDS;
all are autosomal dominant except?
xanthoma formation, atherosclerosis
inheritance of
Familial Hypercholesterolemia?
Familial Hypercholesterolemia:
mutations?
defect in Albinism?
increased sensitivity to solar exposure (prone to wrinkles, squamous cell carcinoma, basal cell carnioma,
solar keratosis);
impaired visual acuity
defect in Alkaptonuria (Ochronosis)?
brittle cartilage, degenerative arhtropathy, blue-black staining of connective tissue
glycogenosis: hepatomegaly, renomegaly;
hypoglcemia, hyperlipidemia, hyperuricemia,
seizures
enzyme involved in Von-Gierke's?
glycogenosis: muscle cramps after exercise
enzyme involved in McArdles?
glycogenosis: cardiomegaly
enzyme involved in Pompe's?
Tay-sachs:
enzyme deficient?
accumulation?
ballooned neurons, cytoplamsic vacuoles, whorled configuration w/in lyososomes;
cherry red spot;
progressive motor & mental retardation
Niemann-Pick:
enzyme deficient?
accumulation?
deficiency in sphingomyelinase;
progressive neurologic involvement,
marked visceral enlargement,
death in 3yrs
deficiency in sphingomyelinase;
organomegaly w/o CNS involvement
defect in transport of cholesterol;
still birth, neonatal hepatitis,
or chronic neurologic damage
foam cells in liver/spleen
Gaucher's:
enzyme deficient?
accumulation?
chronic, non-neuropathic;
involves skeletion & spleen;
decreased activity of glucocerebrosidase
infantile acute cerebral pattern;
complete absence of glucocerebrosidase
intermediate activity of glucocerebrosidase
crumpled tissue paper foamy cells
Fragile-X Syndrome:
mutation?
Fragile-X Syndrome:
fragiles sites located?
mental retardation (IQ 20-60), autistic-like manifestations, long narrow face w/ large mandible, large everted ears, macroorchidism
Prader-Willi Syndrome mutation?
infertility, sparse pubic hair,
pathologic obesity,
hypotonia, learning disabilities,
borderline intellectual capacity,
prone to DM & hypogonadism
Angelman Syndrome mutation?
impairments in hippocampal memory, intellectual & developmental delay, sleep disturbance, seizures, jerky movements, inappropriate laughter
